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MetabolomicsRibosomal mistranslation leads to silencing of the unfolded protein response and increased mitochondrial biogenesis

Translation fidelity is the limiting factor in the accuracy of gene expression. With an estimated frequency of 10-4, errors in mRNA decoding occur in a mostly stochastic manner. Little is known about the response of higher eukaryotes to chronic loss of ribosomal accuracy as per an increase in the...

2019-09-17 | MTBLS106 | MetaboLights
TranscriptomicsRibosomal Protein Gene Deletions in Diamond Blackfan Anemia
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes ha...
ORGANISM(S): Homo sapiens 
2012-01-15 | E-GEOD-31575 | biostudies-arrayexpress
TranscriptomicsAB001
Diamond-Blackfan anemia (DBA) is a congenital disorder that results predominantly from mutations in various ribosomal protein genes. In order to determine how these mutations affect the translation of specific mRNAs, we performed microarray analysis of polysomal transcripts isolated from lymphoblast...
ORGANISM(S): Homo sapiens 
2014-01-30 | E-GEOD-43117 | biostudies-arrayexpress
TranscriptomicsRibosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts
Diamond Blackfan Anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g. Rps19) or large (e.g. Rpl11) ribosomal subunit are found in over half of these patients. The mutations cause ribosomal haploinsufficiency, ...
ORGANISM(S): Mus musculus 
2011-11-14 | E-GEOD-22903 | biostudies-arrayexpress
TranscriptomicsRibosomal protein S6 Rps6 heterozygous null deletion effect on footpad epidermis
Mutant and non-mutant footpad. McGowan et al. in press Keywords: Mutant vs. non-mutant The tissue (footpad epidermis) is from a conditional heterozygous null deletion of Rps6. One copy of Rps6 was deleted from keratinocytes in the skin using the K5.Cre transgene. K5Cre x Rps6^loxP
ORGANISM(S): Mus musculus 
2008-06-12 | E-GEOD-11331 | biostudies-arrayexpress
GenomicsTargeted resequencing of ribosomal proteins in multiple myeloma patient samples.
We studied 38 multiple myeloma samples to discover mutations in ribosomal proteins. To this end, we ran a specifically designed targeted resequencing study to resequence the coding regions of all ribosomal proteins.
EGAS00001002405 | EGA
Transcriptomicsrpl24b/WT polysome loading and transcript levels (Arabidopsis thaliana)
To understand the contribution of the RPL24B protein, a component of the large 60S ribosomal subunit, to the translation of specific mRNAs, we compared the ribosome occupancy of mRNAs in wild type Arabidopsis and the rpl24b/stv1-1 T-DNA insertion mutant. RNA was fractionated using sucrose gradients ...
ORGANISM(S): Arabidopsis thaliana 
2014-01-01 | E-GEOD-51474 | biostudies-arrayexpress
TranscriptomicsDefective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.
Transcriptome profile of highly purified multipotential (P), erythroid (E), and myeloid (M) bone marrow progenitors from three RPS19 mutated Diamond-Blackfan anemia and six control human subjects. Two group comparison of sex and age matched subjects. Bone marrow progenitors, gene expression profilin...
ORGANISM(S): Homo sapiens 
2012-10-16 | E-GEOD-41599 | biostudies-arrayexpress
TranscriptomicsRibosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration
In higher eukaryotes, the large numbers of nuclear-encoded tRNA genes partially ensure the robustness of cytoplasmic protein translation. Here we discover that a loss-of-function in n-Tr20, a member of the nuclear-encoded tRNA Arg UCU family that is expressed specifically in the central nervous syst...
ORGANISM(S): Mus musculus 
2014-07-28 | E-GEOD-56127 | biostudies-arrayexpress
ProteomicsCompensating the fitness costs of synonymous mutations
Synonymous mutations do not change the sequence of the polypeptide but they may still influence fitness. We investigated in Salmonella enterica how four synonymous mutations in the rpsT gene (encoding ribosomal protein S20) reduce fitness (i.e. growth rate) and the mechanisms by which this cost can...
ORGANISM(S): Salmonella typhimurium (strain LT2 / SGSC1412 / ATCC 700720) 
2016-03-11 | PXD003495 | Pride
Salmonella mutations Rpst gene Ribosomal protein s20 
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